P15T (p.Pro15Thr) variant of SUFU (Suppressor of fused homolog)
P15T (p.Pro15Thr) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Joubert syndrome 32; Gorlin syndrome; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- rs761921681
- ClinGen CA5667582
- cosmic curated COSV10592
- ClinVar RCV000535620
- Conflicting interpretations
- Joubert syndrome 32; Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.07
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.00
- CADD 16.10
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Joubert syndrome 32; Gorlin syndrome; Medulloblastoma)
- EBI: Variant of uncertain significance (in dbSNP:rs28942088)
- UniProt: Uncertain significance (in dbSNP:rs28942088)
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)